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MIRAGE
autosomal recessive intellectual developmental disorder 46
Summary
- Definition
- An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33.
- Super Class
- autosomal recessive intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0081210
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P52848 | Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001510 | Growth delay |
| HP:0011463 | Childhood onset |
| HP:0001252 | Hypotonia |
| HP:0000664 | Synophrys |
| HP:0002465 | Poor speech |
| HP:0000303 | Mandibular prognathia |
| HP:0001763 | Pes planus |
| HP:0000750 | Delayed speech and language development |
